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Fletta eftir efnisorði "Gen"

Fletta eftir efnisorði "Gen"

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    Predicted loss and gain of function mutations in ACO1 are associated with erythropoiesis 
    Óskarsson, Guðjón R.; Oddsson, Asmundur; Magnusson, Magnus Karl; Kristjansson, Ragnar; Halldorsson, Gisli; Ferkingstad, Egil; Zink, Florian; Helgadottir, Anna; Ívarsdóttir, Erna V.; Arnadottir, Gudny; Jensson, Brynjar Örn; Katrinardottir, Hildigunnur; Sveinbjornsson, Gardar; Kristinsdóttir, Anna Margrét; Lee, Amy L.; Sæmundsdóttir, Jóna; Stefánsdóttir, Lilja; Sigurðsson, Jón K.; Davíðsson, Ólafur B.; Benonisdottir, Stefania; Jónasdóttir, Áslaug; Jónasdóttir, Aðalbjörg; Jonsson, Stefan; Guðmundsson, Reynir L.; Asselbergs, Folkert W.; Tragante, Vinicius; Gunnarsson, Bjarni; Másson, Gísli; Thorleifsson, Gudmar; Rafnar, Thorunn; Holm, Hilma; Olafsson, Isleifur; Önundarson, Páll Torfi; Gudbjartsson, Daniel; Norðdahl, Guðmundur L.; Thorsteinsdottir, Unnur; sulem, patrick; Stefansson, Kari (Springer Science and Business Media LLC, 2020-04-23)
    Hemoglobin is the essential oxygen-carrying molecule in humans and is regulated by cellular iron and oxygen sensing mechanisms. To search for novel variants associated with hemoglobin concentration, we performed genome-wide association studies of ...
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    Predicted loss and gain of function mutations in ACO1 are associated with erythropoiesis 
    Oskarsson, Gudjon R.; Oddsson, Asmundur; Magnusson, Magnus K.; Kristjansson, Ragnar P.; Halldorsson, Gisli H.; Ferkingstad, Egil; Zink, Florian; Helgadottir, Anna; Ivarsdottir, Erna V.; Arnadottir, Gudny A.; Jensson, Brynjar O.; Katrinardottir, Hildigunnur; Sveinbjornsson, Gardar; Kristinsdottir, Anna M.; Lee, Amy L.; Saemundsdottir, Jona; Stefansdottir, Lilja; Sigurdsson, Jon K.; Davidsson, Olafur B.; Benonisdottir, Stefania; Jonasdottir, Aslaug; Jonasdottir, Adalbjorg; Jonsson, Stefan; Gudmundsson, Reynir L.; Asselbergs, Folkert W.; Tragante, Vinicius; Gunnarsson, Bjarni; Masson, Gisli; Thorleifsson, Gudmar; Rafnar, Thorunn; Holm, Hilma; Olafsson, Isleifur; Onundarson, Pall T.; Gudbjartsson, Daniel F.; Norddahl, Gudmundur L.; Thorsteinsdottir, Unnur; Sulem, Patrick; Stefansson, Kari (2020-04-23)
    Hemoglobin is the essential oxygen-carrying molecule in humans and is regulated by cellular iron and oxygen sensing mechanisms. To search for novel variants associated with hemoglobin concentration, we performed genome-wide association studies of ...
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    Rare SCARB1 mutations associate with high-density lipoprotein cholesterol but not with coronary artery disease 
    Helgadottir, Anna; sulem, patrick; Thorgeirsson, Gudmundur; Grétarsdóttir, Sólveig; Thorleifsson, Gudmar; Jensson, Brynjar Örn; Arnadottir, Gudny; Olafsson, Isleifur; Eyjólfsson, Guðmundur I.; Sigurdardottir, Olof; Thorsteinsdottir, Unnur; Gudbjartsson, Daniel; Holm, Hilma; Stefansson, Kari (Oxford University Press (OUP), 2018-03-27)
    Aims Scavenger receptor Class B Type 1 (SR-BI) is a major receptor for high-density lipoprotein (HDL) that promotes hepatic uptake of cholesterol from HDL. A rare mutation p.P376L, in the gene encoding SR-BI, SCARB1, was recently reported to associate ...
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    Reciprocal White Matter Changes Associated With Copy Number Variation at 15q11.2 BP1-BP2: A Diffusion Tensor Imaging Study 
    Silva, Ana I.; Ulfarsson, Magnus; Stefansson, Hreinn; Gústafsson, Ómar; Walters, G. Bragi; Linden, David E.J.; Wilkinson, Lawrence S.; Drakesmith, Mark; Owen, Michael J.; Hall, Jeremy; Stefansson, Kari (Elsevier BV, 2019-04-01)
    Background: The 15q11.2 BP1-BP2 cytogenetic region has been associated with learning and motor delays, autism, and schizophrenia. This region includes a gene that codes for the cytoplasmic FMR1 interacting protein 1 (CYFIP1). The CYFIP1 protein is ...
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    Redescription of Dexiotricha colpidiopsis (Kahl, 1926) Jankowski, 1964 (Ciliophora, Oligohymenophorea) from a Hot Spring in Iceland with Identification Key for Dexiotricha species 
    Qu, Zhishuai; Groben, René; Marteinsson, Viggó; Agatha, Sabine; Filker, Sabine; Stoeck, Thorsten (Uniwersytet Jagiellonski - Wydawnictwo Uniwersytetu Jagiellonskiego, 2018)
    We isolated an encysted ciliate from a geothermal field in Iceland. The morphological features of this isolate fit the descriptions of Dexiotricha colpidiopsis (Kahl, 1926) Jankowski, 1964 very well. These comprise body shape and size in vivo, the ...
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    Sequence variants associating with urinary biomarkers 
    Benonisdottir, Stefania; Kristjansson, Ragnar P; Oddsson, Asmundur; Steinthorsdottir, Valgerdur; Mikaelsdottir, Evgenia; Kehr, Birte; Jensson, Brynjar O; Arnadottir, Gudny A; Sulem, Gerald; Sveinbjornsson, Gardar; Kristmundsdóttir, Snædís; Ívarsdóttir, Erna V.; Tragante, Vinicius; Gunnarsson, Bjarni; Runolfsdottir, Hrafnhildur Linnet; Arthur, Joseph G; Deaton, Aimee M; Eyjolfsson, Gudmundur I; Davidsson, Olafur B; Asselbergs, Folkert W; Hreidarsson, Astradur B; Rafnar, Thorunn; Thorleifsson, Gudmar; Edvardsson, Vidar; Sigurdsson, Gunnar; Helgadottir, Anna; Halldórsson, Bjarni; Masson, Gisli; Holm, Hilma; Önundarson, Páll Torfi; Indridason, Olafur S; Benediktsson, Rafn; Palsson, Runolfur; Gudbjartsson, Daniel F; Olafsson, Isleifur; Thorsteinsdottir, Unnur; sulem, patrick; Stefansson, Kari (Oxford University Press (OUP), 2018-11-24)
    Urine dipstick tests are widely used in routine medical care to diagnose kidney and urinary tract and metabolic diseases. Several environmental factors are known to affect the test results, whereas the effects of genetic diversity are largely unknown. ...
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    Transcriptome‐wide association study of breast cancer risk by estrogen‐receptor status 
    Feng, Helian; Gusev, Alexander; Pasaniuc, Bogdan; Wu, Lang; Long, Jirong; Abu‐full, Zomoroda; Aittomäki, Kristiina; Andrulis, Irene L.; Anton‐Culver, Hoda; Antoniou, Antonis C.; Arason, Adalgeir; Arndt, Volker; Aronson, Kristan J.; Arun, Banu K.; Asseryanis, Ella; Auer, Paul L.; Azzollini, Jacopo; Balmaña, Judith; Barkardottir, Rosa B.; Barnes, Daniel R.; Barrowdale, Daniel; Beckmann, Matthias W.; Behrens, Sabine; Benitez, Javier; Bermisheva, Marina; Białkowska, Katarzyna; Blanco, Ana; Blomqvist, Carl; Boeckx, Bram; Bogdanova, Natalia V.; Bojesen, Stig E.; Bolla, Manjeet K.; Bonanni, Bernardo; Borg, Ake; Brauch, Hiltrud; Brenner, Hermann; Briceno, Ignacio; Broeks, Annegien; Brüning, Thomas; Burwinkel, Barbara; Cai, Qiuyin; Caldés, Trinidad; Caligo, Maria A.; Campbell, Ian; Canisius, Sander; Campa, Daniele; Carter, Brian D.; Carter, Jonathan; Castelao, Jose E.; Chang‐Claude, Jenny; Chanock, Stephen J.; Christiansen, Hans; Chung, Wendy K.; Claes, Kathleen B. M.; Clarke, Christine L.; Couch, Fergus J.; Cox, Angela; Cross, Simon S.; Cybulski, Cezary; Czene, Kamila; Daly, Mary B.; Hoya, Miguel; De Leeneer, Kim; Dennis, Joe; Devilee, Peter; Diez, Orland; Domchek, Susan M.; Dörk, Thilo; dos‐Santos‐Silva, Isabel; Dunning, Alison M.; Dwek, Miriam; Eccles, Diana M.; Ejlertsen, Bent; Ellberg, Carolina; Engel, Christoph; Eriksson, Mikael; Fasching, Peter A.; Fletcher, Olivia; Flyger, Henrik; Fostira, Florentia; Friedman, Eitan; Fritschi, Lin; Frost, Debra; Gabrielson, Marike; Ganz, Patricia A.; Gapstur, Susan M.; Garber, Judy; García‐Closas, Montserrat; García‐Sáenz, José A.; Gaudet, Mia M.; Giles, Graham G.; Glendon, Gord; Godwin, Andrew K.; Goldberg, Mark S.; Goldgar, David E.; González‐Neira, Anna; Greene, Mark H.; Gronwald, Jacek; Guénel, Pascal; Haiman, Christopher A.; Hall, Per; Hamann, Ute; Hake, Christopher; He, Wei; Heyworth, Jane; Hogervorst, Frans B.L.; Hollestelle, Antoinette; Hooning, Maartje J.; Hoover, Robert N.; Hopper, John L.; Huang, Guanmengqian; Hulick, Peter J.; Humphreys, Keith; Imyanitov, Evgeny N.; Isaacs, Claudine; Jakimovska, Milena; Jakubowska, Anna; James, Paul; Janavicius, Ramunas; Jankowitz, Rachel C.; John, Esther M.; Johnson, Nichola; Joseph, Vijai; Jung, Audrey; Karlan, Beth Y.; Khusnutdinova, Elza; Kiiski, Johanna I.; Konstantopoulou, Irene; Kristensen, Vessela N.; Laitman, Yael; Lambrechts, Diether; Lazaro, Conxi; Leroux, Dominique; Leslie, Goska; Lester, Jenny; Lesueur, Fabienne; Lindor, Noralane; Lindström, Sara; Lo, Wing‐Yee; Loud, Jennifer T.; Lubiński, Jan; Makalic, Enes; Mannermaa, Arto; Manoochehri, Mehdi; Manoukian, Siranoush; Margolin, Sara; Martens, John W.M.; Martinez, Maria E.; Matricardi, Laura; Maurer, Tabea; Mavroudis, Dimitrios; McGuffog, Lesley; Meindl, Alfons; Menon, Usha; Michailidou, Kyriaki; Kapoor, Pooja M.; Miller, Austin; Montagna, Marco; Moreno, Fernando; Moserle, Lidia; Mulligan, Anna M.; Muranen, Taru A.; Nathanson, Katherine L.; Neuhausen, Susan L.; Nevanlinna, Heli; Nevelsteen, Ines; Nielsen, Finn C.; Nikitina‐Zake, Liene; Offit, Kenneth; Olah, Edith; Olopade, Olufunmilayo I.; Olsson, Håkan; Osorio, Ana; Papp, Janos; Park‐Simon, Tjoung‐Won; Parsons, Michael T.; Pedersen, Inge S.; Peixoto, Ana; Peterlongo, Paolo; Peto, Julian; Pharoah, Paul D.P.; Phillips, Kelly‐Anne; Plaseska‐Karanfilska, Dijana; Poppe, Bruce; Pradhan, Nisha; Prajzendanc, Karolina; Presneau, Nadege; Punie, Kevin; Pylkäs, Katri; Radice, Paolo; Rantala, Johanna; Rashid, Muhammad Usman; Rennert, Gad; Risch, Harvey A.; Robson, Mark; Romero, Atocha; Saloustros, Emmanouil; Sandler, Dale P.; Santos, Catarina; Sawyer, Elinor J.; Schmidt, Marjanka K.; Schmidt, Daniel F.; Schmutzler, Rita K.; Schoemaker, Minouk J.; Scott, Rodney J.; Sharma, Priyanka; Shu, Xiao‐Ou; Simard, Jacques; Singer, Christian F.; Skytte, Anne‐Bine; Soucy, Penny; Southey, Melissa C.; Spinelli, John J.; Spurdle, Amanda B.; Stone, Jennifer; Swerdlow, Anthony J.; Tapper, William J.; Taylor, Jack A.; Teixeira, Manuel R.; Terry, Mary Beth; Teulé, Alex; Thomassen, Mads; Thöne, Kathrin; Thull, Darcy L.; Tischkowitz, Marc; Toland, Amanda E.; Tollenaar, Rob A. E. M.; Torres, Diana; Truong, Thérèse; Tung, Nadine; Vachon, Celine M.; Asperen, Christi J.; Ouweland, Ans M. W.; Rensburg, Elizabeth J.; Vega, Ana; Viel, Alessandra; Vieiro‐Balo, Paula; Wang, Qin; Wappenschmidt, Barbara; Weinberg, Clarice R.; Weitzel, Jeffrey N.; Wendt, Camilla; Winqvist, Robert; Yang, Xiaohong R.; Yannoukakos, Drakoulis; Ziogas, Argyrios; Milne, Roger L.; Easton, Douglas F.; Chenevix‐Trench, Georgia; Zheng, Wei; Kraft, Peter; Jiang, Xia (Wiley, 2020-03-01)
    Previous transcriptome-wide association studies (TWAS) have identified breast cancer risk genes by integrating data from expression quantitative loci and genome-wide association studies (GWAS), but analyses of breast cancer subtype-specific associations ...
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    YKL-40/CHI3L1 facilitates migration and invasion in HER2 overexpressing breast epithelial progenitor cells and generates a niche for capillary-like network formation 
    Morera, Erika; Steinhäuser, Sarah Sophie; Budkova, Zuzana; Ingthorsson, Saevar; Kricker, Jennifer; Krueger, Aileen; Traustadottir, Gunnhildur Asta; Gudjonsson, Thorarinn (Springer Science and Business Media LLC, 2019-09-03)
    Epithelial to mesenchymal transition (EMT) is a developmental event that is hijacked in some diseases such as fibrosis and cancer. In cancer, EMT has been linked to increased invasion and metastasis and is generally associated with a poor prognosis. ...